Williams syndrome: A rare genetic disease


Williams syndrome is a disorder of the neurodevelopment which is caused by a deletion of about 26 genes from a strain of chromosome 7. The disease is also known as Williams-Beuren syndrome or WBS. It was discovered by Dr. J.C.P Williams of New Zealand in 1961 and hence, has been named after him. Williams syndrome is extremely rare, in fact one out of 7,500 people have it and it occurs in one out of 20,000 births.

People with Williams syndrome come across as extremely pleasant, friendly and empathetic. The disorder is also characterized by a distinctive ‘elfin’ face appearance, a low nasal bridge and pointy teeth. People who have this disorder have no problem socializing with other; in fact they make friends with strangers within minutes.

On the last episode of 20/20, the host of the show Chris Cuomo, attended a camp for children with Williams syndrome and he got to learn more about the disease and the people who have it. When Cuomo got to the camp, he was greeted with lots of hugs, kisses and pats on the back. Then he was bombarded with questions like ‘what’s your favorite color?’, ‘what’s your favorite food?’, ‘where do you live?’, ‘what do you like?’ and so on.

The camp had children with Williams syndrome who belonged to different age groups. There were even small babies with the disorder and one could tell through their demeanor, that they were not like normal babies. "Little babies will come up to you, they will stare into your face, and it will be hard to actually disengage from that stare," explained Helen Tager-Flusberg whose lab at Boston University studies the social behavior of children with Williams. "When they're four or five...whether they know you or not, within about five minutes you're their new best friend."

It was found out through research, that people with Williams syndrome hold no racial bias. This is because the neural pathway that imprints for race bias is missing in children with this disorder.

As of yet, it has not been discovered that what causes Williams Syndrome, but the deletion of the genes occurs during the production of a sperm or egg cell. Research is already being done to find out why people become so friendly and congenial with the absence of those genes, but as of yet, the answers have not been uncovered.

People who have Williams syndrome, also suffer from physical ailments. They develop heart diseases later in life and most of them do not survive beyond 50 years of age.

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